A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2440531



Internal ID17779471
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:26211886..26214604hg38UCSC Ensembl
Innerchr7:26251506..26254224hg19UCSC Ensembl
Innerchr7:26218031..26220749hg18UCSC Ensembl
Cytoband7p15.2
Allele length
AssemblyAllele length
hg382719
hg192719
hg182719
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv970454
Supporting Variants
SamplesHGDP00665
Known GenesCBX3
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Commentslineage specific duplication - fixed_Pab-Ppy-Ggod-Ggog-Gbeg-Ptrs-Ptrt-Ptre-Ptrv-Ppa-Hsa-Hde
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nssv2440531
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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